CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein

American Journal of Human Genetics

Volumn 96, Issue 1, 2015, Pages 162-169

  Slavotinek, Anne ^a,b   Kaylor, Julie ^c   Pierce, Heather ^d   Cahr, Michelle ^e   Deward, Stephanie J ^d   Schneidman Duhovny, Dina ^a,b   Alsadah, Adnan ^a   Salem, Fadi ^e   Schmajuk, Gabriela ^f   Mehta, Lakshmi ^e  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c ARKANSAS CHILDREN S HOSPITAL   (United States)

^d GENEDX   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; CRB2 PRPTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; CRB2 PROTEIN, HUMAN;

AMNION FLUID; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN VENTRICLE DILATATION; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; DROSOPHILA; EXOME; FETUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; MATERNAL SERUM; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PODOCYTE; PRIORITY JOURNAL; ULTRASOUND; CASE REPORT; CHILD; FEMALE; GENETIC VARIABILITY; GENETICS; HYDROCEPHALUS; MALE; METABOLISM; NEPHROTIC SYNDROME; PREGNANCY; PROTEIN SECONDARY STRUCTURE;

DANIO RERIO;

ALPHA-FETOPROTEINS; AMNIOTIC FLUID; CARRIER PROTEINS; CHILD; FEMALE; FETUS; GENETIC VARIATION; HUMANS; HYDROCEPHALUS; MALE; MEMBRANE PROTEINS; NEPHROTIC SYNDROME; PHENOTYPE; PREGNANCY; PROTEIN STRUCTURE, SECONDARY;

EID: 84920720732     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.11.013     Document Type: Article

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